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SMIM27 small integral membrane protein 27 [ Homo sapiens (human) ]

Gene ID: 100129250, updated on 25-Jan-2022

Summary

Official Symbol
SMIM27provided by HGNC
Official Full Name
small integral membrane protein 27provided by HGNC
Primary source
HGNC:HGNC:31420
See related
Ensembl:ENSG00000235453 AllianceGenome:HGNC:31420
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C9orf133; TOPORS-AS1
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in testis (RPKM 2.9), spleen (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

See SMIM27 in Genome Data Viewer
Location:
9p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (32550976..32566860)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32551142..32566858)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene aconitase 1 Neighboring gene DExD/H-box helicase 58 Neighboring gene TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Neighboring gene NADH:ubiquinone oxidoreductase subunit B6 Neighboring gene DNA fragmentation factor subunit beta pseudogene 1 Neighboring gene uncharacterized LOC105376015 Neighboring gene TATA-box binding protein associated factor 1 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog

General protein information

Preferred Names
small integral membrane protein 27
Names
TOPORS antisense RNA 1 (non-protein coding)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001349118.1NP_001336047.1  small integral membrane protein 27

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein. Variants 1, 2, and 5 encode the same protein.
    Source sequence(s)
    AL353671, CB048380
    Consensus CDS
    CCDS87647.1
    Related
    ENSP00000490275.1, ENST00000453396.5
  2. NM_001349119.2NP_001336048.1  small integral membrane protein 27

    Status: VALIDATED

    Description
    Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5 encode the same protein.
    Source sequence(s)
    AL353671, CB048380, HY032383
    Consensus CDS
    CCDS87647.1
    Related
    ENSP00000490727.2, ENST00000450093.3
  3. NM_001387564.1NP_001374493.1  small integral membrane protein 27

    Status: VALIDATED

    Source sequence(s)
    AL353671
    Related
    ENSP00000508648.1, ENST00000692500.1

RNA

  1. NR_146061.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks a 5' exon and uses an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BI916035, DA702677, HY032383
    Related
    ENST00000425533.1
  2. NR_146063.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a 5' exon and uses an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BI916035, DA753662, HY032383

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    32550976..32566860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447368.1XP_024303136.1  small integral membrane protein 27 isoform X1

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